Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
D000328:Adult; D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D015603:Keratinocytes / Q000473:pathology / Q000502:physiology*; D008297:Male; D008565:Membrane Proteins; D008856:Microscopy, Fluorescence; D009363:Neoplasm Proteins; D010787:Photosensitivity Disorders / Q000235:genetics* / Q000473:pathology; D011038:Rothmund-Thomson Syndrome / Q000235:genetics* / Q000473:pathology
D018389:Codon, Nonsense; D016326:Extracellular Matrix Proteins; C475301:FERMT1 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins